Variant position: 523 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 901 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LTQKRRDALERMEKLLETID RLQLEFARRAAPFNNWLDGAV
Mouse LTQKRRDALERMEKLLETID QLQLEFARRAAPFNNWLDGAI
Bovine LTQKRRDALERMEKLLETID QLQLEFARRAAPFNNWLDGAV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 901 Alpha-actinin-3
523 – 634 Spectrin 3
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
Beggs A.H.; Byers T.J.; Knoll J.H.M.; Boyce F.M.; Bruns G.A.P.; Kunkel L.M.;
J. Biol. Chem. 267:9281-9288(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS GLN-523; ARG-628 AND ARG-776;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-523; ARG-628 AND ARG-776;
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
North K.N.; Yang N.; Wattanasirichaigoon D.; Mills M.; Easteal S.; Beggs A.H.;
Nat. Genet. 21:353-354(1999)
Cited for: VARIANTS GLN-523 AND 577-ARG--LEU-901 DEL; POLYMORPHISM;
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